The development of next-generation sequencing (NGS) has made it possible for researchers and physicians to understand the relationship between genomic information and health more deeply than ever before. NGS-based genomic testing has revolutionized approaches to treating cancers, inherited diseases, and more, and aspirations of personalized medicine are moving closer to reality. However, access to NGS-based genomic testing remains limited, holding back the potential impact its information can have on patient care, population health, and biomedical science at large. Expanding access to this method can empower hospitals and clinics of every size to dive deeper into health insights and give every patient the opportunity to receive the best possible care.
In this piece, we’ll discuss the growing need for increased access to NGS-based genomic testing, what needs to change to make that possible and what expanded accessibility could mean for the future of patient care and population health at large.
The current state of NGS-based genomic testing
Despite increasing use, NGS-based genomic testing capabilities are still largely available only to academic medical centers or labs with connections to academic institutions. Testing equipment can be prohibitively expensive, and NGS results are typically interpreted by a molecular pathologist. Most community hospitals and clinics lack the funds and specific expertise needed to implement an NGS program onsite.
For example, most oncology patients are treated by their community providers where NGS testing either isn’t offered or will be outsourced, sending samples to an external lab for processing. While outsourcing does make testing available to more patients, the stagnant state of lab capabilities has led to considerable bottlenecks in the processing and interpretation of test results. Many patients and providers wait weeks for results, which in many cases could have guided more urgent treatment decisions.
How can NGS-based testing become more accessible?
Progress in NGS technology has primarily focused on speed, accuracy and yield. But without developments that make the equipment and interpretation of results more accessible, further advancements in NGS capabilities can only go so far. More local hospitals and clinics will be able to make an investment in NGS-based testing when they can access an economically feasible testing ecosystem that’s easy to use in their facility. Current NGS technology is limited not only by the initial investment in equipment but also by the cost of each “run” of samples. This results in most labs pooling many patient samples per run and can increase delays for patient results.
Equipment with a more tunable output and lowered cost can make testing of fewer samples on an “on-demand” basis more economically efficient. This would also overcome the misconception that many hospitals don’t have enough patient demand to warrant the implementation of NGS-based testing— if NGS is more affordable, then fewer patients are needed to make the investment “worth it”. Additionally, advances in NGS analysis and bioinformatics infrastructure can bring providers closer to interpreting the results of genomic testing outputs themselves rather than having to rely on reports from testing labs. Development of targeted, NGS-based diagnostic biomarker tests with clear outputs should also make it possible for providers to quickly get binary answers on the suitability of a treatment or clinical trial for their patients so they can take action immediately. In many cancer diagnoses, where time to treatment is a critical factor, this could make a massive impact for patients.
The power of expanded access to NGS
Expanded access to NGS-based testing will impact everyone from individual patients to entire populations. If local healthcare facilities can perform NGS-based genomic testing in-house in an economically efficient way, more patients can access the service, test turnaround times can be reduced, and patients’ own physicians can use these insights to guide treatment decisions and collaborate with other specialists and providers. An improved data infrastructure for processing and interpreting NGS results will also help physicians dive deeper into data insights. Community physicians can share results and leverage the opinions of others in their hospital or clinic as well as experts in larger academic institutions, as in the current practice of Virtual Tumor Board.
Some cancer centers in the United States are starting to offer in-house NGS testing to patients at their clinic. This expansion includes the adoption of advanced data analysis infrastructure that not only provides rapid, comprehensive insights to patients and providers but also helps in matching patients to clinical trials throughout its network. The utility of this expansion goes beyond individual patients— the wealth of data generated through NGS-based testing can advance clinical research and strengthen the knowledge of the entire network.
Looking to the future
The impact of genomic testing has been most profound in the field of oncology. Researchers and clinicians, now provided with insight into the genetic underpinnings of individual tumors, redefined clinical diagnostic and treatment paradigms. While advancements in genomic sequencing technologies will continue to benefit the treatment of cancer patients, the genomic revolution can be leveraged to improve the human condition throughout various stages of life and a myriad of disease states. For example, the insights from NGS-based genomic testing could support similar paradigm shifts in the treatment of cardiovascular disease, neurodegenerative diseases, managing chronic conditions such as diabetes, and developing a deeper understanding of inherited conditions.
Boosting access to NGS-based testing can also have a huge impact on a patient’s treatment experience. For example, with the ability to test more frequently and get clinical answers faster, patients can begin a suitable treatment without waiting weeks for results. By empowering community providers to access and apply NGS insights to patient care, we can also increase patients’ willingness to seek and adhere to treatment— even for more advanced cases, patients could stay close to home and work with a provider they already know and trust.
Finally, expansion of NGS-based genomic testing will serve population health at large. By generating deeper data insights for more patients, we can develop a more complete picture of the population to design more informed, system-level interventions and monitor outcomes. NGS-based genomic testing has the potential to deliver complex insights, but the technique’s impact has only skimmed the surface. While sequencing technology has advanced considerably, developments that make it more accessible for community hospitals and clinics are necessary to drive medicine forward and bring personalized care closer to all patients.
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